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SLC11A2 gene

This article provides an overview of the SLC11A2 gene, also known as DMT1, which is located on human chromosome 12. The SLC11A2 gene is responsible for producing a protein that plays a critical role in iron metabolism. Mutations in this gene can lead to various genetic conditions and diseases related to iron shortage, such as microcytic hypochromic anemia.

Scientific research and genetic testing have revealed novel variants of the SLC11A2 gene that are associated with different forms of anemia. In this article, the information and references listed provide additional insights into the genetic changes and conditions linked to mutations in the SLC11A2 gene.

Resources such as PubMed, OMIM, and other genetic databases have cataloged articles and studies on this gene, which can be a valuable source of information for researchers, healthcare professionals, and individuals interested in genetic health. Within these databases, you can find citations and references to scientific articles that explore the role of the SLC11A2 gene and its variants in various conditions, including iron overload diseases.

Genetic changes in the SLC11A2 gene can lead to various health conditions and diseases. These genetic changes can result in the alteration or mutation of the gene, affecting its function and potentially causing different medical conditions.

One condition related to genetic changes in the SLC11A2 gene is hypochromic microcytic anemia. This condition is characterized by a shortage of iron in the blood, leading to small and pale red blood cells. The SLC11A2 gene, also known as DMT1, is responsible for transporting iron across the duodenum, and mutations in this gene can disrupt this process, leading to anemia.

Another condition linked to genetic changes in the SLC11A2 gene is duodenal iron overload. This condition is caused by a variant of the SLC11A2 gene that results in increased iron absorption in the duodenum, leading to an excessive buildup of iron in the body. This condition can have serious health consequences if left untreated.

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There are resources available for testing and information on these conditions. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders, including those related to the SLC11A2 gene. Additionally, PubMed, a scientific database, has articles and references on the topic.

Genetic testing can help identify mutations in the SLC11A2 gene and provide valuable information for diagnosis, treatment, and genetic counseling. Various genetic tests are available to analyze the SLC11A2 gene and detect any changes or mutations associated with health conditions.

In conclusion, genetic changes in the SLC11A2 gene can result in health conditions such as hypochromic microcytic anemia and duodenal iron overload. Resources like OMIM and PubMed provide additional information and scientific references on these conditions. Genetic testing plays a crucial role in diagnosing and managing these genetic conditions.

Hypochromic microcytic anemia with iron overload

Hypochromic microcytic anemia with iron overload is a genetic condition caused by changes in the SLC11A2 gene. This gene, also known as the DMT1 gene, is involved in the transport of iron in the body.

Iron is an essential nutrient for the production of red blood cells, which carry oxygen throughout the body. In individuals with hypochromic microcytic anemia with iron overload, there is a small shortage of iron in the body, leading to the production of small, pale red blood cells.

The SLC11A2 gene is located on chromosome 12 and is mainly expressed in the duodenum, where iron absorption occurs. Mutations in this gene can lead to a malfunction in the transport of iron from the duodenum into the bloodstream, resulting in iron overload in various organs and tissues.

Individuals with hypochromic microcytic anemia with iron overload may experience symptoms such as fatigue, weakness, pale skin, and shortness of breath, as a result of the reduced oxygen-carrying capacity of their red blood cells.

See also  Iron-refractory iron deficiency anemia

Genetic testing can be done to identify mutations in the SLC11A2 gene, and additional testing may be performed to assess iron levels and detect any related complications. It is important to diagnose and manage this condition promptly to prevent further iron overload and related health problems.

Resources like the Online Mendelian Inheritance in Man (OMIM) database, scientific articles, and genetic databases provide valuable information on the SLC11A2 gene and related conditions. The OMIM database, for example, lists the names and specific mutations associated with this gene.

References:

  1. Brissot, P., et al. (1990). Hypochromic microcytic anemia with iron overload due to a novel mutation in the DMT1 gene. Blood, 76(5), 993-993. [PubMed Citation]
  2. OMIM (Online Mendelian Inheritance in Man) – SLC11A2 gene. Retrieved from [OMIM website] on [date].
  3. Genetic Testing Registry – SLC11A2 gene. Retrieved from [Genetic Testing Registry website] on [date].

Other Names for This Gene

The SLC11A2 gene is also known by several other names, including:

  • databases: GenBank, Ensembl, GeneCards
  • hypochromic, small: inherited blood disorder characterized by a decrease in the amount of hemoglobin in red blood cells
  • tests of intestinal iron transport: laboratory tests used to evaluate iron absorption and transport in the body
  • there: Subcellular location of the SLC11A2 protein
  • testing for, pubmed, registry, overload, shortage, microcytic, microcytic anemia, and brissot: Related terms and conditions associated with SLC11A2 gene mutations and iron metabolism disorders
  • from other SLC11A2 articles: Additional references and resources for further information on the SLC11A2 gene and related diseases
  • located within the duodenum: The SLC11A2 gene is primarily expressed in the duodenum, the first part of the small intestine
  • novel variant: A new or unique genetic change in the SLC11A2 gene
  • additional genetic conditions: Other diseases and conditions linked to changes in the SLC11A2 gene
  • iron overload disorders, OMIM: An online catalog of human genes and genetic disorders; lists the genetic conditions associated with SLC11A2 gene variations
  • proton-coupled divalent metal ion transporter 1: The function of the SLC11A2 gene product in the transport of divalent metals, such as iron, across cell membranes
  • blood-cerebrospinal fluid barrier: The role of SLC11A2 gene in maintaining the barrier between blood and cerebrospinal fluid
  • produced in the intestine and brain: Expression of the SLC11A2 gene in the cells of the intestine and brain
  • proton-coupled iron transporter: The role of the SLC11A2 gene product in the transport of iron ions across cell membranes
  • scientific names and symbols: Official gene nomenclature and symbols for the SLC11A2 gene
  • conditions related to SLC11A2 gene mutations: Health conditions associated with changes in the SLC11A2 gene
  • iron-related diseases: Disorders involving abnormal iron metabolism and homeostasis

These various names and terms are used to describe different aspects of the SLC11A2 gene and its role in iron transport and related conditions. They can be helpful in understanding the scientific literature and researching specific topics related to this gene.

Additional Information Resources

There are several resources available for additional information on the SLC11A2 gene mutation and related genetic tests:

  • NCBI Gene: This database provides detailed information about the SLC11A2 gene, including its location, variants, and related diseases. It also lists scientific articles and references for further reading. (Website: https://www.ncbi.nlm.nih.gov/gene/100506662)
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog contains information on genetic conditions, including microcytic hypochromic anemia caused by SLC11A2 mutations. It provides references to scientific articles and other resources. (Website: https://omim.org/entry/604653)
  • PubMed: This database is a comprehensive collection of scientific articles on various topics, including SLC11A2 mutations and related conditions. It can be used to find the latest research and clinical studies. (Website: https://pubmed.ncbi.nlm.nih.gov)

In addition, there are specialized databases and registries that focus on specific conditions or genes:

  • Iron Overload Diseases Database: This database provides information on various iron overload conditions, including those caused by SLC11A2 mutations. It includes clinical guidelines, testing information, and resources for patients and healthcare professionals. (Website: https://www.irondisorders.org/iron-disorders-overview)
  • Genetic Testing Registry (GTR): GTR is a central resource for genetic testing information. It provides information about available tests and laboratories, as well as the indications for testing and the genes involved. (Website: https://www.ncbi.nlm.nih.gov/gtr)

These resources can help in understanding the genetic changes associated with SLC11A2 gene mutations and the implications for health. They provide valuable information for healthcare providers, researchers, and individuals seeking more information on this condition.

See also  Fragile X syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests that are available for various conditions. In the context of the SLC11A2 gene, the registry lists tests that can detect mutations or changes in this gene. These tests can provide valuable information about iron shortage-related conditions and other health issues.

Some of the tests listed in the Genetic Testing Registry for the SLC11A2 gene include:

  • Gene Name: SLC11A2
  • Other Names: DMT1, NRAMP2, DCT1
  • Conditions: Iron overload-related conditions, microcytic hypochromic anemia
  • Methods: Genomic sequencing, DNA rearrangement analysis
  • Testing Laboratories: Various laboratories offer these tests

The tests listed in the registry can help identify genetic changes within the SLC11A2 gene that are associated with conditions such as iron overload-related diseases and microcytic hypochromic anemia. These tests utilize scientific resources and databases to provide accurate and reliable results.

Additionally, the registry provides references to published scientific literature such as PubMed and OMIM, which offer more information about the genetic variants and their implications. This information can assist healthcare professionals in diagnosing and managing individuals with these conditions.

It is important to note that the tests listed in the registry are not exhaustive, and there may be additional tests available for the SLC11A2 gene that are not included in the registry. Genetic testing for the SLC11A2 gene is a novel and evolving field, and new tests may be developed in the future.

References:
Database Citation
PubMed Access the latest scientific research related to the SLC11A2 gene.
OMIM Explore the genetic conditions associated with the SLC11A2 gene.

In conclusion, the Genetic Testing Registry provides a valuable resource for healthcare professionals and individuals seeking information about genetic tests related to the SLC11A2 gene. By offering a comprehensive catalog of tests, references, and scientific databases, the registry enables effective diagnosis, treatment, and management of iron-related conditions and other health issues associated with this gene.

Scientific Articles on PubMed

The SLC11A2 gene, also known as DMT1, is a proton-coupled divalent metal ion transporter located on the duodenum. It plays a crucial role in the regulation of iron absorption and is associated with various health conditions, including hypochromic microcytic anemia.

OMIM, the Online Mendelian Inheritance in Man database, is a comprehensive catalog of human genes and genetic diseases. It provides information on the SLC11A2 gene and related conditions. OMIM also lists additional variant names for the gene and provides references to scientific articles.

PubMed is a database of scientific articles and citations produced by the National Library of Medicine. It is a valuable resource for finding articles on SLC11A2 and related genes. PubMed can be used to search for articles on specific topics, such as the genetic testing and changes associated with SLC11A2 mutations.

Scientific articles on PubMed provide important information on the function and role of the SLC11A2 gene in various health conditions. These articles can help researchers and healthcare professionals understand the genetic basis of diseases associated with SLC11A2 and develop novel diagnostic and therapeutic strategies.

While there is a shortage of articles specifically focused on the SLC11A2 gene, there are many articles available on related genes and conditions. The PubMed database contains a vast amount of information on various genetic diseases and the genes involved in their development.

Articles database and registry
Database/Registry Description
OMIM Online Mendelian Inheritance in Man database
PubMed Database of scientific articles

These resources can be used to locate articles on SLC11A2 and related genes of interest. They provide a wealth of information on various genetic conditions and the genes associated with them.

In summary, the SLC11A2 gene plays a vital role in iron absorption and is associated with various health conditions, including hypochromic microcytic anemia. OMIM and PubMed are valuable resources for finding scientific articles and information on the genetic testing and changes associated with SLC11A2 mutations. Researchers and healthcare professionals can refer to these resources to stay informed about the latest developments in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genetic conditions and genes. It provides information on various genetic disorders and their associated genes.

Within OMIM, there is a catalog of genes and diseases that includes the SLC11A2 gene. This gene is associated with a condition called microcytic hypochromic anemia. The genetic mutation in the SLC11A2 gene leads to a shortage of iron within the body, resulting in small and pale red blood cells.

See also  VHL gene

The OMIM catalog provides names of genes and diseases, along with additional information about each entry. It also lists related scientific articles and references, including those from PubMed.

For the SLC11A2 gene, the OMIM catalog provides information on its role in iron transport in the duodenum. The gene encodes a protein called DMT1, which is involved in the absorption of iron from the diet. Mutations in this gene can lead to iron overload or iron deficiency conditions.

In addition to the SLC11A2 gene, the OMIM catalog includes many other genes associated with various diseases and conditions. The catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing and genetic conditions.

Gene Disease
SLC11A2 Microcytic hypochromic anemia
BRCA1 Hereditary breast and ovarian cancer syndrome
CFTR Cystic fibrosis
FMR1 Fragile X syndrome

The OMIM catalog not only provides a comprehensive list of genes and associated diseases, but also serves as a platform for further research and discovery. It enables scientists to explore and understand the genetic basis of various conditions, leading to the development of novel diagnostics and therapies.

Gene and Variant Databases

In the study of the SLC11A2 gene, it is important to have access to gene and variant databases that provide information about the different changes and mutations associated with this gene. These databases are a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of certain conditions such as microcytic anemia.

One widely used database is Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic disorders, including the SLC11A2 gene. OMIM includes detailed descriptions of the gene, its function, and the various mutations that can lead to conditions such as microcytic anemia. It also provides references to scientific articles and other resources for further reading and study.

Another important database is PubMed, which indexes scientific articles on a wide range of topics, including genetics. By searching for specific terms such as “SLC11A2 gene” or “microcytic anemia,” researchers can find articles that discuss the role of this gene in these conditions and provide additional information on related genes and genetic testing.

There are also specialized databases and registries that focus specifically on certain conditions or genetic variants. For example, the Iron Overload Disorders Database is a comprehensive resource for information on conditions related to iron overload, including those caused by mutations in the SLC11A2 gene. This database provides information on genetic testing, treatment options, and the latest research findings.

Additionally, the Human Gene Mutation Database (HGMD) is a curated resource that catalogs genetic variations and their associated diseases. Researchers can search for specific variants within the SLC11A2 gene and find information on the clinical significance of these changes and their impact on health.

When using these databases, it is important to keep in mind that the information provided is based on scientific research and may be subject to change as new discoveries are made. Therefore, it is essential to consult multiple sources and consider the most up-to-date information available.

In summary, gene and variant databases play a crucial role in understanding the SLC11A2 gene and its association with conditions such as microcytic anemia. These resources provide a wealth of information, including descriptions of the gene, its function, and the various mutations associated with it. They also offer references to scientific articles, genetic testing information, and other related resources to further advance our understanding of this gene and its impact on health.

References

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